A Commercial Blueprint for Gene Therapy in Rare Disease

Gene therapy has long been heralded as the future of medicine — but for patients living with rare diseases, it could also be the present.

As of 2024, more than 650 gene therapy clinical trials are ongoing worldwide, reflecting the scientific community’s growing momentum in this transformative field.

The global gene therapy market is projected to surpass $30 billion by 2030, driven by a compound annual growth rate (CAGR) of 50.8% from 2024 to 2030.

This progress is particularly significant for the rare disease community. There are over 7,000 known rare diseases — though some analyses, like that from RARE-X, suggest the number could be closer to 10,867, including genetic and non-genetic conditions.

Despite this, roughly 95% of rare diseases still have no FDA-approved treatment, leaving more than 400 million people worldwide — about 1 in 10 individuals — affected by conditions with limited or no therapeutic options. For these patients, the journey to an accurate diagnosis alone can take five to seven years, compounding the burden of illness.

While gene therapies offer the promise of curative, one-time treatments, they also present new commercial challenges. These therapies can cost between $1 million to $3.5 million per patient, depending on the condition and platform.

gene therapy in rare disease — Carlos Martin
Chief Commercial Officer
(formerly at Rocket Pharma and Novartis)
and Board Member

And despite their high price tags, many gene therapy programs operate with thinner margins than traditional pharmaceuticals, largely due to the complexities of manufacturing and the need for scale and platform efficiency.

The regulatory environment is evolving in parallel, with the FDA’s Office of Tissues and Advanced Therapies (OTAT) receiving more than 200 Investigational New Drug (IND) applications for cell and gene therapies annually — underscoring the field’s rapid pace of innovation and the need for early, ongoing regulatory engagement.

At Rocket Pharmaceuticals, the promise of gene therapy is taking shape through a strategic blend of science, platform versatility and early commercial foresight.

Carlos Martin, the previous Chief Commercial Operations and Revenue Officer at Rocket Pharmaceuticals, shared insights on how the company is building for scale, impact and long-term sustainability — setting a blueprint for the next era of rare disease innovation.

Xtalks Clinical Edge: Issue 5 — A Blueprint for Commercializing Gene Therapy in Rare Disease

Xtalks Clinical Edge™ is a magazine for clinical research professionals and all who want to be informed about the latest trends and happenings in clinical trials. This magazine immerses you in a world where industry leaders, patient advocates and top researchers converge to provide the most insightful perspectives on clinical trials.

A Strategic Shift from Big Pharma to Rare Disease Biotech

Martin’s career spans decades in the pharmaceutical industry, with leadership roles at Eli Lilly, Schering-Plough and Novartis across therapeutic areas including oncology, cardiovascular and virology. But it was the entrepreneurial challenge of building something new — and the opportunity to work at the intersection of science and patient impact — that ultimately drew him to Rocket Pharma.

“Rocket was the perfect place when I looked at it coming from Novartis,” he said. “It had advanced platforms, rare disease focus and the ability to build a company the right way.”

At Rocket, Martin saw the opportunity to apply his commercial expertise in a setting where strategic thinking starts early, and patient outcomes are deeply personal. The company’s platform-agnostic approach enables it to develop gene therapies for hematologic, immunologic and inherited cardiac conditions, always addressing serious unmet needs in rare diseases.

Why Early Commercialization Planning Is Essential

Martin emphasized that success in gene therapy requires commercial thinking at every stage of the development process. Too often, R&D-stage companies wait until late-phase trials to begin preparing for market — a mistake that can undercut the value and adoption of promising therapies.

“If you leave out pricing, health economics or how the therapy will be adopted in clinical practice, you’re not fully developing the asset.”

— Carlos Martin

At Rocket, early commercialization involves far more than market analysis. It’s about defining clinically meaningful endpoints, aligning with payer expectations, planning sustainable supply chains and identifying the right patient populations from the outset.

“We always talk in my team that we’re not launching a product — we’re launching a new company,” Martin noted.

That mindset has led Rocket to focus not only on building a robust pipeline but also on developing internal infrastructure across finance, compliance, HR and operations — the foundational systems needed to transition from an R&D engine to a commercial-stage enterprise.

Operating in Rare Disease: Barriers, Benefits and the Need for Focus

The development of rare diseases presents its unique challenges: limited patient populations, inconsistent diagnostic pathways and often a lack of consensus around clinical endpoints. These realities require deep collaboration and strategic precision.

“Sample sizes are small, so every patient counts — and that makes trial design and patient selection incredibly important,” Martin explained.

Yet working in rare disease also offers a powerful sense of focus and purpose. Unlike larger pharmaceutical companies juggling dozens of priorities, biotechs like Rocket can devote their full attention to a handful of critical programs. That focus enables meaningful partnerships with clinicians, advocacy groups and the patients themselves.

“You’re part of a family that goes beyond company walls,” Martin said. “The closeness to patients and their families is one of the main reasons I joined Rocket.”

Making Gene Therapy Commercially Viable: What it Will Take

Despite significant scientific progress, the commercial model for gene therapy remains a work in progress. The curative potential of one-time treatments creates a pricing challenge — one that must reconcile high upfront costs with long-term value and affordability.

According to Martin, commercial success in gene therapy depends on three critical factors: a high unmet need, high disease severity and a clear therapeutic impact.

“If you don’t hit those three, it becomes hard to justify pricing or see quick adoption,” he said.

And while gene therapy price tags have drawn public scrutiny, Martin pointed out that manufacturing costs are significantly higher than many realize — particularly in early-stage, small-batch production. As a result, margins in gene therapy often lag behind other pharmaceutical modalities.

To address this, Rocket is building a scalable platform. By developing multiple programs within a shared modality, the company can drive efficiencies in manufacturing, supply chain and regulatory strategy.

Collaboration Across Stakeholders Is Non-Negotiable

The development and commercialization of gene therapies rely on a dense web of collaboration. Academic partners often generate the foundational science, while patient advocacy groups shape clinical strategy and support trial recruitment. Manufacturing partners help scale production, and regulators provide critical guidance from the earliest stages.

“In gene therapy, you need to be very open-minded. These programs often start in academia, and success depends on integrating that with industry, payers and regulators.”

— Carlos Martin

Rocket’s pipeline reflects this model. The company’s programs originated through partnerships with institutions in Spain and the US, and were developed in collaboration with clinical experts and patient communities. Martin emphasized the importance of collaborating with investigators who are not only scientifically engaged but also connected to advocacy organizations.

He also cited the example of Sarepta’s Duchenne muscular dystrophy (DMD) program, which demonstrated how advocacy groups can elevate a company’s regulatory case and serve as trusted partners at critical milestones.

Regulatory Engagement: Start Early and Stay Aligned

Regulators, such as the FDA and the EMA, have made significant strides in supporting the development of gene therapies, particularly in the treatment of rare diseases. Still, the bar for approval continues to rise, and early engagement is essential.

Martin praised the FDA’s proactive stance and noted ongoing efforts to harmonize regulatory frameworks across jurisdictions. However, he stressed that companies must initiate conversations with agencies as early as basic research and Phase I trial design.

“Regulators want endpoints that will be used in clinical practice. If you don’t align early, you’re going to run into problems later,” he said.

In parallel, Rocket also begins early engagement with payers, evaluating what outcomes and data will be necessary to support reimbursement. Especially in cases where an asset has multiple potential indications, sequencing development to align with payer priorities is critical to achieving long-term success.

A Portfolio Mindset for Long-Term Success in Rare Disease

Martin believes the rare disease field is entering a new phase — one that will reward scientific ambition and platform scalability. While broader therapeutic categories are drawing investor attention, there’s still a path forward for rare diseases that deliver meaningful innovation.

“The era of incremental improvements is over. If you want to succeed in rare disease, you have to be ambitious,” he said. “You need therapies that truly change clinical practice.”

To sustain innovation, Martin argued, companies must think beyond single assets. A successful gene therapy company will need a robust pipeline — ideally within a shared platform that enables shared development, manufacturing and regulatory infrastructure.

“You can’t go all in on just one asset,” he added. “You need to aggregate rare diseases into a portfolio.”

A Call to Action for the Next Generation of Innovators

Martin closed the conversation with a message for the life sciences community: consider rare disease and gene therapy not just as scientific challenges, but as human opportunities.

“It’s fascinating work, and it brings you close to patients in a way few other fields can,” he said. “When someone in your family is affected, it’s not rare anymore.”

As Rocket Pharma continues advancing its gene therapy pipeline, the company is setting a powerful example for how scientific rigour, early commercial thinking and deep collaboration can come together to build something bigger than any single product — a company that’s transforming what’s possible in medicine.